"ITMI"[submitter] AND "SDHD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6895	NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	LOC126861339, SDHD (G12S)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 135196	NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)	SDHD (F34C)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +7 more	GConflicting classifications of pathogenicity
Select item 6909	NM_003002.4(SDHD):c.149A>G (p.His50Arg)	SDHD (H50R)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GBenign/Likely benign
Select item 135198	NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)	SDHD (L85F +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 135197	NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)	SDHD (Y93C +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +8 more	GConflicting classifications of pathogenicity
Select item 135199	NM_003002.4(SDHD):c.480A>G (p.Ter160Trp)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance

ClinVar